Congenital Disorders Flashcards

1
Q

Congenital Anemia with RS mutation

A

ALAS2

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2
Q

Hemochromatosis mutations

A

C282y and h63d

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3
Q

Indication for phlebotomy in hemochromatosis

A

End organ damage , sx, ferritin >300 in men, 200 in women

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4
Q

Phlebotomy goal In hemochromatosis

A

Ferritin <50

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